Table 1 Basic demographics of 28 PALB2 mutation carriers with tumour material available for pathology review

From: Tumour morphology predicts PALB2 germline mutation status

Mutation

Probands

Relatives

Ages of diagnosis

Resource

Reference

PALB2 c.3113G>A

3

2

28, 35, 37, 42, 47

Australian BCFR

Southey et al (2010)

 

2

0

45, 57

Ontario BCFR

 

1

0

48

Utah BCFR

 

7

4

32, 40, 41, 47, 47, 48, 49, 49, 54, 61, 63

kConFab

Southey et al (2010)

 

5a

0

33, 38, 42, 44, 45

VFBCC

Teo et al (2013b)

PALB2 c.196C>T

1

0

43

kConFab

Teo et al (2013a)

PALB2 c.1947_1948insA

1

0

42

kConFab

Teo et al (2013a)

PALB2 c.2982_2983insT

1

1

47, 54

kConFab

Teo et al (2013a)

  1. Abbreviations: BCFR=Breast Cancer Family Registry; kConFab=Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; VFBCC=Victorian Familial Breast Cancer Cohort.
  2. aOne proband in the VFBCC was a relative of a proband participating in the Australian BCFR, and both were carriers of PALB2 c.3113G>A.